"GeneDx"[submitter] AND "NDUFA4"[gene] - ClinVar

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Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 more	Copy number loss	See cases	GPathogenic
Select item 59567	GRCh38/hg38 7p21.3(chr7:10691723-11375132)x3	LOC100131472, LOC113687186 +9 more	Copy number gain	See cases	GUncertain significance
Select item 1291023	NM_002489.4(NDUFA4):c.190-43G>A	NDUFA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317990	NM_002489.4(NDUFA4):c.190-50C>T	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673394	NM_002489.4(NDUFA4):c.189+281A>C	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224062	NM_002489.4(NDUFA4):c.189+87C>T	NDUFA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318146	NM_002489.4(NDUFA4):c.132-116A>G	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682709	NM_002489.4(NDUFA4):c.131+161T>C	NDUFA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317513	NM_002489.4(NDUFA4):c.43-3T>C	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676940	NM_002489.4(NDUFA4):c.43-120A>T	NDUFA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682708	NM_002489.4(NDUFA4):c.43-266T>A	NDUFA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320569	NM_002489.4(NDUFA4):c.42+313del	NDUFA4	Deletion (intron variant)	not provided	GLikely benign
Select item 682704	NM_002489.4(NDUFA4):c.42+247T>C	NDUFA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317856	NM_002489.4(NDUFA4):c.42+236dup	NDUFA4	Duplication (intron variant)	not provided	GLikely benign
Select item 1294022	NM_002489.4(NDUFA4):c.42+207G>A	NDUFA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318947	NM_002489.4(NDUFA4):c.42+50G>A	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318130	NM_002489.4(NDUFA4):c.42+24A>T	NDUFA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2662453	NM_002489.4(NDUFA4):c.30G>A (p.Lys10=)	NDUFA4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 388754	NM_002489.4(NDUFA4):c.-6G>A	NDUFA4	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 380557	NM_002489.4(NDUFA4):c.-7C>T	NDUFA4	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 381433	NM_002489.4(NDUFA4):c.-13C>T	NDUFA4	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 515233	NM_002489.4(NDUFA4):c.-18G>T	NDUFA4	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1318156	NC_000007.14:g.10940254T>C	NDUFA4	Single nucleotide variant	not provided	GLikely benign
Select item 677068	NM_002489.3(NDUFA4):c.-233G>T	NDUFA4	Single nucleotide variant	not provided	GLikely benign
Select item 1287603	NC_000007.14:g.10940291C>A	NDUFA4	Single nucleotide variant	not provided	GBenign
Select item 677067	NM_002489.3(NDUFA4):c.-234G>A	NDUFA4	Single nucleotide variant	not provided	GLikely benign
Select item 676243	NM_002489.3(NDUFA4):c.-253T>C	NDUFA4	Single nucleotide variant	not provided	GBenign
Select item 1318340	NC_000007.14:g.10940440T>C	NDUFA4	Single nucleotide variant	not provided	GLikely benign

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Items: 28